Gene: Phtf1 MGI:1332671

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Gene Summary

Name:
putative homeodomain transcription factor 1
Synonyms:
Phft

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal uterus morphology Phtf1tm1b(KOMP)Wtsi HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

76 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Phtf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Phtf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... OMIM:273250
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm ORPHA:145
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Ambiguous genitalia, Abnormality of the uterus, Abnormal morphology of female int... ORPHA:2138
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Increased circulating gonadotropin level, Male hyp... ORPHA:755
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the vagina OMIM:158330
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphology, Gonadobl... ORPHA:168563
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hypoplasia of penis ORPHA:2849
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal spleen morphology, Aplasia/Hypoplasia of the ... ORPHA:2470
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypospadias, Annular pancreas, Hypoplas... OMIM:601346
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency, Pancreatitis OMIM:167800
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Elevated circulating luteinizing hormone level, Increased circulating gonadotropin ... ORPHA:90793
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Septate vagina, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Papillary cystadenoma of the epididymis, Neo... OMIM:193300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Congenit... OMIM:202010
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... ORPHA:432
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Abnormality... ORPHA:168558
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly, Portal hyperten... OMIM:263200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelphys, Hypoparathyroidism, Ap... ORPHA:2237
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Abnormality... ORPHA:289548
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Absent vas deferens, Jaundice, Bicornuate uterus, Papillary cystadenoma of the... ORPHA:93111
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... ORPHA:785
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Accessory spleen, Bifid scrotum, Micropenis, Aplasia of the ... OMIM:618280
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Portal hypertension, Bile duct proliferation, H... OMIM:267010
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... ORPHA:94095
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas ORPHA:1318
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Accessory spleen, Pancreatic cysts, Pancre... ORPHA:564
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Elevated circulating thyroid-st... OMIM:241080
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Shawl scrotum OMIM:616263
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Epididymal cyst, Biliary tract abnor... OMIM:137920
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis OMIM:557000
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Jacobsen Syndrome
Cryptorchidism, Clitoral hypoplasia, Hypospadias, Labial hypoplasia, Annular pancreas OMIM:147791
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Clitoral hypertrop... ORPHA:90794
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Pancreatic cysts, Ovarian cyst OMIM:311200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Bile... OMIM:208500
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:110100
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Abnormal spermatogenesis, Streak ovary, Hypoplasia of the uteru... ORPHA:3464
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepatic fibrosis, Jaundi... ORPHA:731
Von Hippel-Lindau Disease
Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Papillary cystadenoma of the epididy... ORPHA:892
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus OMIM:274000
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nip... ORPHA:69085
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Polycystic liver disease, Pancreatic cysts ORPHA:730
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphology, Splenomegaly ORPHA:464329
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Ambiguous genitalia, Micropenis, Pancreatic fibrosis OMIM:263520
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
17Q12 Microdeletion Syndrome
Shawl scrotum, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis, Annular pancreas OMIM:227646
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic s... OMIM:601186
Fryns Syndrome
Cryptorchidism, Bifid scrotum, Polysplenia, Shawl scrotum, Ectopic pancreatic tissue, Bicornuate ... OMIM:229850
Beckwith-Wiedemann Syndrome
Cryptorchidism, Exocrine pancreatic insufficiency, Pseudohypoparathyroidism, Gonadoblastoma, Hepa... ORPHA:116
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Hypogonadism, Annular pancreas OMIM:268400
Trisomy 8P
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Micropenis, Annular pancreas ORPHA:264450
Distal Monosomy 12Q
Biliary atresia, Unilateral cryptorchidism, Micropenis, Annular pancreas, Pituitary adenoma ORPHA:96149
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatic steatosis, Macronodular cirrhosis, Pancreatic fibrosis... ORPHA:699
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Annular pancreas, Hypospadias OMIM:616975
Feingold Syndrome 1
Polysplenia, Asplenia, Accessory spleen, Annular pancreas OMIM:164280
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Penoscrotal transposition, Cystocele, Absent penis, ... ORPHA:322
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Hypergonadotropic hypo... ORPHA:572333
1P36 Deletion Syndrome
Cryptorchidism, Hepatic steatosis, Hypogonadism, Abnormality of female external genitalia, Hypopl... ORPHA:1606
Jacobsen Syndrome
Cryptorchidism, Annular pancreas ORPHA:2308
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Hypospadias OMIM:236680
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Rectovaginal fistula, Hypospadias, R... OMIM:107480
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Abnormality of the pancreas, Exocrine pancreatic insufficiency ORPHA:2750
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Schinzel-Giedion Syndrome
Annular pancreas, Streak ovary, Hypospadias, Micropenis, Hepatoblastoma ORPHA:798
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Uterine prolapse OMIM:130050
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Accessory spleen, Biliary tract abnormality, Hypospadias, ... OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus, Hypospadias OMIM:135900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicornuate uterus, Asplenia, Annular pancreas OMIM:265380
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Shawl scrotum, Papillary cystadenoma of the epididymis, Hypospadias... OMIM:180849
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters-Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Biliary tract abnormality, Bilobate gallbladder, Clitor... OMIM:261540
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine rupture, Uterine prolapse, Cystocele, Hypospadias ORPHA:286
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Hypoplastic labia majora, Aplasia of the upper vagina, Hypospadias... OMIM:601803
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Hypospadias, Anterior hypopituitarism ORPHA:709

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Phtf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phtf1.

No publications found that use IMPC mice or data for Phtf1.

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MGI Allele Allele Type Produced
Phtf1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Phtf1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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